1. Becerra TA, von Ehrenstein OS, Heck JE, Olsen J, Arah OA, Jeste SS, Rodriguez M, Ritz B. {{Autism Spectrum Disorders and Race, Ethnicity, and Nativity: A Population-Based Study}}. {Pediatrics};2014 (Jun 23)
OBJECTIVE: Our understanding of the influence of maternal race/ethnicity and nativity and childhood autistic disorder (AD) in African Americans/blacks, Asians, and Hispanics in the United States is limited. Phenotypic differences in the presentation of childhood AD in minority groups may indicate etiologic heterogeneity or different thresholds for diagnosis. We investigated whether the risk of developing AD and AD phenotypes differed according to maternal race/ethnicity and nativity.METHODS: Children born in Los Angeles County with a primary AD diagnosis at ages 3 to 5 years during 1998-2009 were identified and linked to 1995-2006 California birth certificates (7540 children with AD from a cohort of 1 626 354 births). We identified a subgroup of children with AD and a secondary diagnosis of mental retardation and investigated heterogeneity in language and behavior.RESULTS: We found increased risks of being diagnosed with AD overall and specifically with comorbid mental retardation in children of foreign-born mothers who were black, Central/South American, Filipino, and Vietnamese, as well as among US-born Hispanic and African American/black mothers, compared with US-born whites. Children of US African American/black and foreign-born black, foreign-born Central/South American, and US-born Hispanic mothers were at higher risk of exhibiting an AD phenotype with both severe emotional outbursts and impaired expressive language than children of US-born whites.CONCLUSIONS: Maternal race/ethnicity and nativity are associated with offspring’s AD diagnosis and severity. Future studies need to examine factors related to nativity and migration that may play a role in the etiology as well as identification and diagnosis of AD in children.
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2. Buck TR, Viskochil J, Farley M, Coon H, McMahon WM, Morgan J, Bilder DA. {{Psychiatric Comorbidity and Medication Use in Adults with Autism Spectrum Disorder}}. {J Autism Dev Disord};2014 (Jun 24)
The purpose of this study was to investigate comorbid psychiatric disorders and psychotropic medication use among adults with autism spectrum disorder (ASD) ascertained as children during a 1980’s statewide Utah autism prevalence study (n = 129). Seventy-three individuals (56.6 %) met criteria for a current psychiatric disorder; 89 participants (69.0 %) met lifetime criteria for a psychiatric disorder. Caregivers reported a psychiatric diagnosis in 44 participants (34.1 %). Anxiety disorder had the highest current and lifetime prevalence (39.5 and 52.7 %, respectively). Participants with intellectual disability (n = 94, 72.8 %) were significantly less likely to have community-based diagnoses of anxiety (chi2 = 5.37, p = 0.02) or depression (chi2 = 13.18, p < 0.001) reported by caregivers. Seventy-six participants (58.9 %) were taking >/=1 psychotropic medication. Comorbid psychiatric disorders occur frequently in adults with ASD, though identifying these disorders poses a challenge in community settings. A greater understanding of the presentation of these conditions within this population will increase assessment validity and the potential for efficacious intervention.
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3. Castro J, Garcia RI, Kwok S, Banerjee A, Petravicz J, Woodson J, Mellios N, Tropea D, Sur M. {{Functional recovery with recombinant human IGF1 treatment in a mouse model of Rett Syndrome}}. {Proc Natl Acad Sci U S A};2014 (Jun 23)
Rett Syndrome is a neurodevelopmental disorder that arises from mutations in the X-linked gene methyl-CpG binding protein 2 (MeCP2). MeCP2 has a large number of targets and a wide range of functions, suggesting the hypothesis that functional signaling mechanisms upstream of synaptic and circuit maturation may contribute to our understanding of the disorder and provide insight into potential treatment. Here, we show that insulin-like growth factor-1 (IGF1) levels are reduced in young male Mecp2-null (Mecp2-/y) mice, and systemic treatment with recombinant human IGF1 (rhIGF1) improves lifespan, locomotor activity, heart rate, respiration patterns, and social and anxiety behavior. Furthermore, Mecp2-null mice treated with rhIGF1 show increased synaptic and activated signaling pathway proteins, enhanced cortical excitatory synaptic transmission, and restored dendritic spine densities. IGF1 levels are also reduced in older, fully symptomatic heterozygous (Mecp2-/+) female mice, and short-term treatment with rhIGF1 in these animals improves respiratory patterns, reduces anxiety levels, and increases exploratory behavior. In addition, rhIGF1 treatment normalizes abnormally prolonged plasticity in visual cortex circuits of adult Mecp2-/+ female mice. Our results provide characterization of the phenotypic development of Rett Syndrome in a mouse model at the molecular, circuit, and organismal levels and demonstrate a mechanism-based therapeutic role for rhIGF1 in treating Rett Syndrome.
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4. Cutting J. {{Autism and the brain: neurophenomenological interpretation}}. {Cogn Neuropsychiatry};2014 (Mar);19(2):184-188.
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5. Falkmer M, Black M, Tang J, Fitzgerald P, Girdler S, Leung D, Ordqvist A, Tan T, Jahan I, Falkmer T. {{Local visual perception bias in children with high-functioning autism spectrum disorders; do we have the whole picture?}}. {Dev Neurorehabil};2014 (Jun 24):1-6.
Abstract Objective: While local bias in visual processing in children with autism spectrum disorders (ASD) has been reported to result in difficulties in recognizing faces and facially expressed emotions, but superior ability in disembedding figures, associations between these abilities within a group of children with and without ASD have not been explored. Methods: Possible associations in performance on the Visual Perception Skills Figure-Ground test, a face recognition test and an emotion recognition test were investigated within 25 8-12-years-old children with high-functioning autism/Asperger syndrome, and in comparison to 33 typically developing children. Results: Analyses indicated a weak positive correlation between accuracy in Figure-Ground recognition and emotion recognition. No other correlation estimates were significant. Conclusion: These findings challenge both the enhanced perceptual function hypothesis and the weak central coherence hypothesis, and accentuate the importance of further scrutinizing the existance and nature of local visual bias in ASD.
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6. Georgiades S, Boyle M, Szatmari P, Hanna S, Duku E, Zwaigenbaum L, Bryson S, Fombonne E, Volden J, Mirenda P, Smith I, Roberts W, Vaillancourt T, Waddell C, Bennett T, Elsabbagh M, Thompson A. {{Modeling the Phenotypic Architecture of Autism Symptoms from Time of Diagnosis to Age 6}}. {J Autism Dev Disord};2014 (Jun 24)
The latent class structure of autism symptoms from the time of diagnosis to age 6 years was examined in a sample of 280 children with autism spectrum disorder. Factor mixture modeling was performed on 26 algorithm items from the Autism Diagnostic Interview – Revised at diagnosis (Time 1) and again at age 6 (Time 2). At Time 1, a « 2-factor/3-class » model provided the best fit to the data. At Time 2, a « 2-factor/2-class » model provided the best fit to the data. Longitudinal (repeated measures) analysis of variance showed that the « 2-factor/3-class » model derived at the time of diagnosis allows for the identification of a subgroup of children (9 % of sample) who exhibit notable reduction in symptom severity.
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7. Gillberg C, Fernell E. {{Autism Plus Versus Autism Pure}}. {J Autism Dev Disord};2014 (Jun 24)
The reported prevalence of autism is going up and up. We propose that some-even much-of the increase in the rate of autism spectrum disorder (ASD) is driven by « Autism Plus ». Autism Plus refers to autism with comorbidities (including intellectual developmental disorder, language disorder, and attention-deficit/hyperactivity disorder), and this is what is now being diagnosed by clinicians as ASD. In clinical practice, a diagnosis of ASD much more often entails that the child will receive support at school and in the community, which is not the case for other diagnoses. In the past the comorbidities were given diagnostic priority and the « autistic features » might, or might not be mentioned as the « plus bit » in the diagnostic summary. It is high time that the comorbidities, sometimes even more important than the autism, came back on the diagnostic agenda. Autism is but one of the Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examination (ESSENCE), not the one and only.
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8. Hall DA, Bennett DA, Filley CM, Shah RC, Kluger B, Ouyang B, Berry-Kravis E. {{Fragile X gene expansions are not associated with dementia}}. {Neurobiol Aging};2014 (May 2)
The purpose of this study was to determine the frequency of fragile X mental retardation 1 (FMR1) premutation size expansions in individuals with Alzheimer’s disease (AD) and other cognitive disorders compared with control subjects. FMR1 genetic screening was completed in patients being seen in a neurobehavioral or AD clinics. Appropriate controls were also collected. A second cohort was a community based, autopsy confirmed, sample of individuals with normal cognitive function, mild cognitive impairment, or AD. There was not an increased frequency of FMR1 expansions in individuals with cognitive disorders, including AD, compared with control subjects.
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9. Kasari C, Lawton K, Shih W, Barker TV, Landa R, Lord C, Orlich F, King B, Wetherby A, Senturk D. {{Caregiver-Mediated Intervention for Low-Resourced Preschoolers With Autism: An RCT}}. {Pediatrics};2014 (Jun 23)
OBJECTIVES: To compare 2 short-term, community caregiver training interventions for preschool-aged children with Autism Spectrum Disorder who had low resources. Low resource was defined by the US Department of Housing and Urban Development low-income index or 1 « indicator, » (eg, Medicaid eligibility). Child outcomes focused on joint engagement, joint attention, and play.METHODS: Participants included 112 families of a child who had Autism Spectrum Disorder who met criteria for being low-resourced and who were randomly assigned to 1 of 2 3-month interventions, group caregiver education or individualized caregiver-mediated intervention (CMM). Children were assessed for social communication skills pre- and post-treatment, and followed up at 3 months.RESULTS: All children improved in joint engagement and initiating joint attention, with significantly greater improvement by the CMM group. Outcomes on play skills were mixed, with improvement of symbolic play for the CMM group and no change in functional play skills. Joint engagement maintained over time for the CMM group, and initiating joint attention maintained for both groups over time.CONCLUSIONS: This study is among the first randomized trials comparing 2 active interventions with a large sample of low-resourced families. Results suggest improvements in core autism deficits of joint engagement, joint attention, and symbolic play with relatively brief, caregiver-mediated interventions, but additional support is necessary to maintain and generalize these gains over time.
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10. Marshall J, Ware R, Ziviani J, Hill RJ, Dodrill P. {{Efficacy of interventions to improve feeding difficulties in children with autism spectrum disorders: a systematic review and meta-analysis}}. {Child Care Health Dev};2014 (Jun 25)
BACKGROUND: Feeding difficulties are relatively common in children with autism spectrum disorders (ASD), but current evidence for their treatment is limited. This review systematically identifies, reviews and analyses the evidence for intervention in young children with ASD and feeding difficulties. METHODS: A comprehensive search strategy was used to identify studies from January 2000 to October 2013. Studies were included if they described interventions where the goal was to increase desirable eating behaviours or decrease undesirable eating behaviours using an experimental design, including single-subject research methodology. Studies were reviewed for descriptive information, and research quality was appraised using a formal checklist. Individual study findings were compared using Improvement Rate Difference (IRD), a method for calculating effect size in single-subject research. RESULTS: Overall, 23 papers were included. All studies reviewed had five or fewer participants, and reported on operant conditioning style intervention approaches, where the child is prompted to perform an action, and receives a contingent response. Where quality measures were not met, it was primarily due to lack of detail provided for the purposes of replication, or failure to meet social validity criteria. Meta-analysis indicated a medium-large effect size [mean = 0.69, 95% confidence interval (CI) 0.60 to 0.79] when the outcome measured was an increase in desirable behaviours (e.g. consuming food), but a small-negligible effect size (mean = 0.39, 95% CI 0.18 to 0.60) when the outcome measured was a decrease in undesirable mealtime behaviours (e.g. tantrums). Only a small proportion of studies reported outcomes in terms of increased dietary variety rather than volume of food consumed. CONCLUSIONS: The reviewed literature consisted primarily of low-level evidence. Favourable intervention outcomes were observed in terms of increasing volume, but not necessarily variety of foods consumed in young children with ASD and feeding difficulties. Further research in the form of prospective randomized trials to further demonstrate experimental effect in this area is required.
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11. McCrimmon AW, Matchullis RL, Altomare AA. {{Resilience and emotional intelligence in children with high-functioning autism spectrum disorder}}. {Dev Neurorehabil};2014 (Jun 24):1-8.
Abstract Purpose: This article presents the results of an investigation of resilience factors and their relation to emotional intelligence (EI) as an area of potential strength for children with high-functioning autism spectrum disorder (HFASD). Based upon previous research with young adults, it was hypothesized that children with HFASD would demonstrate reduced EI and differential relations between EI and resilience as compared to typically developing (TD) children. Methods: Forty children aged 8-12 years (20 with HFASD and 20 TD control children) completed measures of resilience and EI. Results: Children with HFASD did not significantly differ from TD children on either measure. However, several significant correlations between resilience and EI were found in the HFASD sample. Conclusions: The findings suggest that EI may be a unique area of interest for this population, particularly for interventions that propose to capitalize upon potentially inherent strengths. Implications of these results for intervention are discussed.
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12. Mellios N, Woodson J, Garcia RI, Crawford B, Sharma J, Sheridan SD, Haggarty SJ, Sur M. {{beta2-Adrenergic receptor agonist ameliorates phenotypes and corrects microRNA-mediated IGF1 deficits in a mouse model of Rett syndrome}}. {Proc Natl Acad Sci U S A};2014 (Jun 23)
Rett syndrome is a severe childhood onset neurodevelopmental disorder caused by mutations in methyl-CpG-binding protein 2 (MECP2), with known disturbances in catecholamine synthesis. Here, we show that treatment with the beta2-adrenergic receptor agonist clenbuterol increases survival, rescues abnormalities in respiratory function and social recognition, and improves motor coordination in young male Mecp2-null (Mecp2-/y) mice. Importantly, we demonstrate that short-term treatment with clenbuterol in older symptomatic female heterozygous (Mecp2-/+) mice rescues respiratory, cognitive, and motor coordination deficits, and induces an anxiolytic effect. In addition, we reveal abnormalities in a microRNA-mediated pathway, downstream of brain-derived neurotrophic factor that affects insulin-like growth factor 1 (IGF1) expression in Mecp2-/y mice, and show that treatment with clenbuterol restores the observed molecular alterations. Finally, cotreatment with clenbuterol and recombinant human IGF1 results in additional increases in survival in male null mice. Collectively, our data support a role for IGF1 and other growth factor deficits as an underlying mechanism of Rett syndrome and introduce beta2-adrenergic receptor agonists as potential therapeutic agents for the treatment of the disorder.
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13. Mito H, Matsuura N, Mukai K, Yanagisawa Y, Nakajima A, Motoyama M, Arikawa A, Yamanishi K, Matsunaga H. {{The impacts of elevated autism spectrum disorder traits on clinical and psychosocial features and long-term treatment outcome in adult patients with obsessive-compulsive disorder}}. {Compr Psychiatry};2014 (May 17)
BACKGROUND: While a close relation between obsessive-compulsive disorder (OCD) and autism spectrum disorder (ASD) has been pointed out, there are few studies that have investigated whether highly elevated ASD traits may have significant impacts on clinical and psychosocial features as well as long-term treatment outcome in adult OCD patients. METHODS: We assessed ASD traits using the Autism Spectrum Quotient (AQ) in 81 Japanese patients with OCD. The relation between degree of ASD traits and clinical and psychosocial variables and the 48-week treatment outcomes was analyzed in the subjects. RESULTS: A substantial proportion of the subjects showed higher ASD traits (35%) with more severe depressive or pervasive anxiety status, and social impairments and lower QOL compared to other OCD individuals. However, elevated ASD traits may exert rather smaller impact on the OCD phenomenology along with on the long-term treatment outcome than expected. CONCLUSIONS: Elevated ASD traits may further emphasize the general psychopathological and socio-dysfunctional features rather than clinical aspects associated with OCD. Co-existing depressive or anxious symptom severity may further exacerbate the core-deficits related to ASD pathology. Thus the assessment of ASD traits should be important for understanding the clinical and psychosocial features and treatment responses in OCD patients.
